In the 1970s, with the advent of biochemical multichannel screening in the United States and other western countries, the clinical presentation of primary hyperparathyroidism （PHPT） changed from a symptomatic to an asymptomatic disorder. However, in Asian countries, like China, PHPT did not show this evolution, but rather continued to be a symptomatic disease with target organ involvement. In this paper, we revisit the clinical features of PHPT in New York and Shanghai, representative United States and Chinese cites, over the past decade. The questions we address are whether the disease evolved in China to a more asymptomatic one and, whether in the United States further changes are evident. The results indicate that while PHPT con- tinues to present primarily as an asymptomatic disease in the United States, a new phenotype characterized by normal serum calcium and high parathyroid hormone levels, normocalcemic PHPT, has emerged. Data from Shanghai demonstrates a trend for PHPT to present more commonly as an asymptomatic disorder in China. However, most patients with PHPT in China still manifest classical symptoms, i.e. nephrolithiasis and fractures. A comparison of the two cohorts shows that Chinese patients with PHPT are younger, with higher serum calcium and PTH levels, and lower 25-hydroxyvitamin D levels than patients in New York. Normocalcemic PHPT has not yet been recognized in Shanghai. In summary, although the phenotypes of PHPT in both cities are evolving towards less evident disease, sharp clinical and biochemical differences are still apparent in PHPT as expressed in China and the United States.
Jian-min LiuNatalie E. CusanoBarbara C. SilvaLin ZhaoXiao-yan HeBei TaoLi-hao SunHong-yan ZhaoWen-wei FanMegan E. RomanoGuang NingJohn P. Bilezikian
目的探讨基因多态性以及基因-基因交互作用对骨密度及骨质疏松性骨折的影响。方法选取与骨密度或骨质疏松性骨折相关的23个基因的39个单核苷酸多态性（SNP）位点，在683名上海汉族绝经后女性中通过TaqMan SNP Genotyping Assay和Mass—Array Technology Platform of Sequenom等两种方法进行测定，分析这些位点与绝经后女性人群的骨密度及骨质疏松性骨折的相关关系。结果9个基因中的12个SNP位点，即rs7524102、rs6696981（ZBTB40基因），rs9479055（ESR1基因），rs6993813、rs6469804、rs11995824（OPG基因），rs3736228（LRP5基因），rs1107748（SOST基因），rs87938（CTNNB1基因），rs1366594（MEF2C基因），rs7117858（SOX6基因）以及rs10048146（FOXL1基因）与腰椎（L1-L4）或总髋部骨密度相关。位点rs11898505（SPTBN1基因）与骨质疏松性骨折相关（OR 0．522，95％CI 0．326～0．838，P=0．007）。rs1038304（ESR1）、rs1366594（MEF2C）以及rs10048146（FOXL1）三者的交互作用与骨质疏松骨折相关（P=0．0107）。结论（1）基因ZBTB40、ESR1、OPG、LRP5、SOST、CTNNB1、MEF2C、SOX6、FOXL1和SPTBN1的SNP位点与上海汉族绝经后女性的骨密度（腰椎L1—L4或总髋部）或骨质疏松性骨折相关。（2）骨质疏松性骨折的发生与ESR1、MEF2C、FOXL1三个基因的交互作用有关。
